ClinVar Miner

Submissions for variant NM_001164508.2(NEB):c.4094A>T (p.Gln1365Leu)

gnomAD frequency: 0.00001  dbSNP: rs375155384
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002035215 SCV002109053 uncertain significance Nemaline myopathy 2 2022-06-27 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with NEB-related conditions. This variant is present in population databases (rs375155384, gnomAD 0.002%). This sequence change replaces glutamine, which is neutral and polar, with leucine, which is neutral and non-polar, at codon 1365 of the NEB protein (p.Gln1365Leu).
Ambry Genetics RCV002545381 SCV003666119 uncertain significance Inborn genetic diseases 2022-12-06 criteria provided, single submitter clinical testing The c.4094A>T (p.Q1365L) alteration is located in exon 37 (coding exon 35) of the NEB gene. This alteration results from a A to T substitution at nucleotide position 4094, causing the glutamine (Q) at amino acid position 1365 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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